|
Patients
|
1
|
2
|
3
|
4
|
5
|
6
|
7
|
8
|
9
|
10
|
|---|
|
Sulfatases (% of control)
| | | | | | | | | | |
|
ArsA
|
4
|
14
|
10
|
5
|
3
|
3
|
5
|
2
|
8
|
7
|
|
ArsB
|
16
|
13
|
6
|
5
|
ND
|
7
|
ND
|
9
|
4
|
ND
|
|
ArsC
|
15
|
6
|
ND
|
4
|
ND
|
2
|
ND
|
ND
|
7
|
ND
|
|
IDS
|
7
|
3
|
4
|
2
|
20
|
ND
|
3
|
1
|
ND
|
0
|
|
SGSH
|
ND
|
19
|
ND
|
ND
|
ND
|
ND
|
ND
|
0.5
|
ND
|
0
|
|
G6S
|
ND
|
0
|
ND
|
ND
|
ND
|
ND
|
ND
|
ND
|
ND
|
2
|
|
GalNS
|
ND
|
5
|
ND
|
ND
|
28
|
2
|
ND
|
ND
|
ND
|
ND
|
|
Mean
|
11
|
9
|
7
|
4
|
17
|
4
|
4
|
3
|
6
|
2
|
|
Urinary GAG (mg/mmol creatinine)
|
0.1; 0.2
| |
GAG: 18.8; 14.4
|
GAG: 0.3
|
GAG: 18.1; 11
|
ND
|
GAG: 12.5
|
ND
|
GAG: 22
|
GAG: 33
|
|
(control: <1.8)
| |
(control: <13)
|
(control: <2.6)
|
(control: <13)
| |
(control: <3.3)
| |
(control: <8)
|
(control: <6.3)
|
|
HS: 20%;
|
HS:+++
|
HS: traces
| | | |
HS++++; CS+++
| |
HS: 88.5%;
|
HS+++; CS+++
|
|
CS: 80%;
|
DS: +++
| | | | |
DS+; KS: traces
| |
CS: 11.5%; no
|
DS++; no KS
|
|
no DS
| | | | | | | |
DS; no KS
| |
|
Urinary sulfatides (nmol/mmol creatinine)
|
88 (control: < 40)
|
positive
|
ND
|
positive
|
263 (control: < 40)
|
ND
|
ND
|
ND
|
ND
|
ND
|
- Sulfatase activities were determined on lysates of peripheral blood leukocytes, and are expressed as percentage of the values measured in control samples. Abnormal urinary excretion of glycosaminoglycans and sulfatides is indicated (note that distinct methods were employed by different laboratories). Abbreviations: ArsA arylsulfatase A, ArsB arylsulfatase B, ArsC arylsulfatase C, IDS iduronate 2-sulfatase, SGSH N-sulfoglucosamine sulfohydrolase, G6S glucosamine 6-sulfatase, GalNS galactosamine 6-sulfatase, GAG glycosaminoglycans, HS heparan sulfate, DS dermatan sulfate, KS keratan sulfate, CS chondroitin sulphate, ND not determined.
